A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin

@article{Naeem2009AMI,
  title={A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin},
  author={Muhammad Naeem and Sabeen Sheikh and Wasim Ahmad},
  journal={BMC Medical Genetics},
  year={2009},
  volume={10},
  pages={76 - 76}
}
Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, osteosclerosis, acro-osteolysis, frequent fractures and skull deformities. Mutations in the gene encoding cathepsin K (CTSK), a lysosomal cysteine protease, have been found to be responsible for this disease. To identify pathogenic mutation in a consanguineous Pakistani family with 3 affected individuals demonstrating autosomal recessive pycnodysostosis. Genotyping of 10 members of the family… CONTINUE READING
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